rs183643295
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs183643295(C;G) |
Make rs183643295(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 177404082 |
Gene | F12, SLC34A1 |
is a | snp |
is | mentioned by |
dbSNP | rs183643295 |
dbSNP (classic) | rs183643295 |
ClinGen | rs183643295 |
ebi | rs183643295 |
HLI | rs183643295 |
Exac | rs183643295 |
Gnomad | rs183643295 |
Varsome | rs183643295 |
LitVar | rs183643295 |
Map | rs183643295 |
PheGenI | rs183643295 |
Biobank | rs183643295 |
1000 genomes | rs183643295 |
hgdp | rs183643295 |
ensembl | rs183643295 |
geneview | rs183643295 |
scholar | rs183643295 |
rs183643295 | |
pharmgkb | rs183643295 |
gwascentral | rs183643295 |
openSNP | rs183643295 |
23andMe | rs183643295 |
SNPshot | rs183643295 |
SNPdbe | rs183643295 |
MSV3d | rs183643295 |
GWAS Ctlg | rs183643295 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs183643295(G;G) |
Alt | rs183643295(G;G) |
Reference | Rs183643295(C;C) |
Significance | Probable-Pathogenic |
Disease | Reduced factor XII activity Factor XII deficiency disease |
Variation | info |
Gene | F12 |
CLNDBN | Reduced factor XII activity Factor XII deficiency disease |
Reversed | 0 |
HGVS | NC_000005.9:g.176831083C>G |
CLNSRC | |
CLNACC | RCV000363246.1, RCV000490384.1, |